711406009: Autosomal recessive axonal neuropathy with neuromyotonia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Neuromyotonia\Autosomal recessive axonal neuropathy with neuromyotonia
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Neuromyotonia\Autosomal recessive axonal neuropathy with neuromyotonia
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia

\Central nervous system finding\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Neuromyotonia\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Neuromyotonia\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Neuromyotonia\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of soft tissue\Peripheral nerve disease\Neuromyotonia\Autosomal recessive axonal neuropathy with neuromyotonia
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive axonal neuropathy with neuromyotonia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive axonal neuropathy with neuromyotonia	Is a	Axonal neuropathy	false	Inferred relationship	Some
Autosomal recessive axonal neuropathy with neuromyotonia	Is a	Neuromyotonia	true	Inferred relationship	Some
Autosomal recessive axonal neuropathy with neuromyotonia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Autosomal recessive axonal neuropathy with neuromyotonia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive axonal neuropathy with neuromyotonia	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	1
Autosomal recessive axonal neuropathy with neuromyotonia	Is a	Peripheral axonal neuropathy	true	Inferred relationship	Some
Autosomal recessive axonal neuropathy with neuromyotonia	Finding site	Axon structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3078312013	Autosomal recessive axonal neuropathy with neuromyotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078319016	Autosomal recessive neuromyotonia with axonal neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078377011	Autosomal recessive axonal neuropathy with neuromyotonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078517018	Myokymia, myotonia and muscle wasting	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078521013	Gamstorp-Wohlfart syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
930161000172110	ARAN-NM - autosomal recessive axonal neuropathy with neuromyotonia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1007201000172118	neuropathie axonale autosomique récessive avec neuromyotonie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
935141000172119	autosomaal recessieve axonale neuropathie met neuromyotonie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
994941000172112	ARAN-NM - autosomaal recessieve axonale neuropathie met neuromyotonie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)